The RD-Connect project in years 2012-2018

RD-Connect was established in November 2012 as a 6-year project financed by the European Commission under an FP7 grant. That multidisciplinary project united partners from the EU and beyond to create an integrated global infrastructure for rare disease research.

RD-Connect is a collaborative work of a number of partners working on eight different aspects (work packages) of developing the rare disease research infrastructure. The work of RD-Connect works across the EU, with different working teams based in different countries.

Coordination and Management

The RD-Connect coordination office, based at the Newcastle University in the UK, was lead by Prof. Hanns Lochmüller (2012-2017) and managed by Emma Heslop (2012-2016) and Libby Wood (2017-2018). The coordination team led on the strategic direction of the project, along with being responsible for financial and communication activities.

Patient registries

The work on linking up rare disease patient registries across the world, lead by Domenica Taruscio, was conducted by teams at the Istituto Superiore di Sanità in Rome, Italy and Medical University of Graz, Austria. They have developed Registry & Biobank Finder, a global directory of patient registries and biobank for rare disease research. To support data exchange, the team has developed standards of data interoperability for patient registries.
Read more>>

Biobanks

The biobank team at the Fondazione Telethon in Milan, Italy, lead by Dr Lucia Monaco, and University Medical Center Groningen, the Netherlands, focused on connecting biobanks and developing the RD-Connect Sample Catalogue, which allows researchers browse individual biosamples. They worked closely with the patient registry team, to integrate information on the existing biobanks and patient registries in the common Registry & Biobank Finder. Read more>>

Data linkage

The RD-Connect partners in the Netherlands (Leiden University Medical Center and University Medical Center Groningen) focused on the technical aspect of linking different types of data between institutions across countries. The Data Linkage Plan was implementing the FAIR (Findable, Accessible, Interoperable, Reusable) principles to allow queries and analyses on different data sources without the requirement to bring these data physically together. The team collaborated closely with the patient registry, biobanks and Genome-Phenome Analysis Platform teams.
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Genomne-Phenome Analysis Platform

The team lead by Dr Ivo Gut, the project coordinator since January 2018, at the Centro Nacional de Análisis Genómico in Barcelona, Spain, developed the Genome-Phenome Analysis Platform that enables the users to analyse next-generation sequencing data and connect them to clinical information. The work was coordinated by Sergi Beltran Agulló. Read more>>

Bioinformatic tools

To enable novel types of analysis of next-generation sequencing data, several bioinformatics teams working in
RD-Connect, are developing a number of innovative bioinformatics tools. Read more>>

Ethical, Legal and Social Issues (ELSI)

To ensure protection patient privacy without compromising research and drug discovery, the team of ethicists and lawyers lead by Prof. Mats Hansson at the Centrum För Forsknings- & Bioetik of the Uppsala University, Sweden, provides guidance to researchers and work on the most appropriate models for data sharing. The ELSI work also includes the interdisciplinary Rare Disease Patients Ethics Council. Read more>>

Science Communication and Impact

Ensuring that the work of RD-Connect has an impact on research, diagnosis and the quality of life of patients is the focus of the Impact team, lead by Prof. Kate Bushby at the Newcastle University, UK. The work on RD-Connect monthly newsletters, website, media and other dissemination channels is coordinated by Dr Dorota Badowska.

Patient engagement

Patient engagement in RD-Connect is coordinated by Dr Virginie Bros-Facer from the European Rare Diseases Organisation EURORDIS. The Patient Advisory Council informs the project partners of issues important to patients, which allows ensuring that all project activities have a patient-centric approach throughout. Read more>>

See who participated in the RD-Connect project between 2018 and 2012

The Executive Management Committee (EMC) consisted of work package leaders and was responsible for the day-to-day operational management of the project alongside the coordination team.

Meeting of the EMC in Leiden in 2017

The EMC members and invited guests.

Chair of the Executive Management Committee

Position: Director of CNAG
Organisation: Centro Nacional de Análisis Genómico
Area of work: Genomics Platform, Management

Vice-chair of the Executive Management Committee

Position: RD-Connect Project Manager
Organisation: Newcastle University
Area of work: Management

Executive Management Committee (EMC)

Position: Assistant Professor of Genetics, head of the bioinformatics team at the UMR_S 910 research unit
Organisation: Aix-Marseille University Medical School
Area of work: Bioinformatics

Position: Research Infrastructure Project Manager
Organisation: EURORDIS – Rare Diseases Europe
Area of work: Patient engagement

Position: Professor of Neuromuscular Genetics
Organisation: Newcastle University
Area of work: Impact

Position: Director
Organisation: Office of Population Health Genomics (OPHG)
Area of work: Bioinformatics, Registries

Position: Professor of Biomedical Ethics
Organisation: Uppsala University
Area of work: Ethical Legal Social Issues

Position: Associate professor at Leiden University Medical Center
Organisation: Leiden University Medical Center
Area of work: Data linkage

Position: Chief Executive Officer
Organisation: Finovatis
Area of work: Management

Position: Head of Research Impact and Strategic Analysis at Fondazione Telethon
Organisation: Fondazione Telethon
Area of work: Biobanks

Position: Director
Organisation: Istituto Superiore di Sanità (ISS)
Area of work: Registries

Chair of the Scientific Advisory Board

Position: Director of the Centre of Genomics and Policy
Organisation: McGill University
Area of work: Ethical Legal Social Issues

Scientific Advisory Board (SAB)

Position: Director, Center for Computational Pharmacology & Computational Bioscience Program
Organisation: University of Colorado Denver
Area of work: Bioinformatics

Position: Member of SMA Support UK
Organisation: Lakeside Regulatory Consulting Services Ltd.
Area of work: Ethical Legal Social Issues, Impact, Patient engagement

Position: Independent advisor
Organisation: unaffiliated

Position: Head of the Institute of Medical Genetics and Applied Genomics
Organisation: Universitätsklinikum Tübingen

Position: Professor of Computational Biology
Organisation: Jackson Laboratory for Genomic Medicine
Area of work: Data linkage

Position: Head of Division of Paediatric Nephrology and KFH Children’s Kidney Center
Organisation: Universitätsklinikum Heidelberg

Position: Platform Leader, Informatics and Bio-computing
Organisation: Ontario Institute for Cancer Research
Area of work: Bioinformatics

All organisations

Aix-Marseille University Medical School

Area of work: Bioinformatics
Role: Full Partner

Association Française contre les Myopathies (AFM)

Area of work:
Role: Associated Partner

Barcelona Supercomputing Center (BSC)

Area of work: Bioinformatics, Genomics Platform
Role:

Biomedical Research Foundation of Academy of Athens

Area of work: Biobanks, Bioinformatics
Role: Associated Partner

CARE4RARE

Area of work:
Role: Associated Partner

Centre for Biomedical Network Research on Rare Diseases

Area of work:
Role: Associated Partner

Centre for Comparative Genomics, Murdoch University

Area of work: Bioinformatics
Role: Full Partner

Centro Nacional de Análisis Genómico

Area of work: Genomics Platform
Role: Full Partner, RD-Connect Community

Centro Nacional de Investigaciones Oncológicas

Area of work: Bioinformatics
Role: Full Partner

Charles University

Area of work: Impact, Registries
Role: Full Partner

Children’s National Medical Center

Area of work:
Role: Associated Partner

ELIXIR

Area of work: Data linkage
Role: RD-Connect Community

EuroBioBank

Area of work: Biobanks
Role: Associated Partner

European Bioinformatics Institute

Area of work: Bioinformatics
Role: Full Partner

EURORDIS – Rare Diseases Europe

Area of work: Ethical Legal Social Issues
Role: Full Partner

Finovatis

Area of work: Management
Role: Full Partner

Fondation Maladies Rares

Area of work: Impact
Role: Full Partner, RD-Connect Community

Fondazione Telethon

Area of work: Biobanks
Role: Full Partner

Foundation for Research and Technology – Hellas (FORTH)

Area of work: Bioinformatics
Role: Associated Partner

Garvan Institute of Medical Research

Area of work: Bioinformatics
Role: Associated Partner

Genzyme Europe B.V.

Area of work: Impact
Role: Associated Partner

INSERM US14 – Orphanet

Area of work: Biobanks, Registries
Role: Associated Partner

Institute of Molecular Genetics and Genetic Engineering University of Belgrade (IMGGE)

Area of work:
Role: Associated Partner, RD-Connect Community

Instituto de Salud Carlos III

Area of work: Biobanks, Registries
Role: Full Partner, RD-Connect Community

Interactive Biosoftware

Area of work: Bioinformatics
Role: Full Partner

Istituto Superiore di Sanità (ISS)

Area of work: Registries
Role: Full Partner

Karolinska Institutet

Area of work: Biobanks
Role: Full Partner

Leiden University Medical Center

Area of work: Data linkage
Role: Full Partner

LYSOGENE

Area of work:
Role: Associated Partner

Medical University of Graz

Area of work: Biobanks
Role: Full Partner

National Center of Neurology & Psychiatry (NCNP)

Area of work:
Role: Associated Partner

National DNA Bank-Carlos III. University of Salamanca

Area of work: Biobanks
Role: Associated Partner

National Genetics Reference Laboratory Manchester

Area of work: Bioinformatics
Role: Associated Partner

Newcastle University

Area of work: Ethical Legal Social Issues, Genomics Platform, Impact, Management
Role: Full Partner

Office of Population Health Genomics (OPHG)

Area of work: Bioinformatics, Registries
Role: Full Partner

Orphan Europe Recordati Group

Area of work: Registries
Role: Associated Partner

PatientCrossroads

Area of work: Genomics Platform, Registries
Role: Full Partner

Telethon Network of Genetic Biobanks

Area of work: Biobanks
Role: Associated Partner

Universitätsklinikum Freiburg

Area of work:
Role: Associated Partner

University Hospital of Ulm

Area of work: Biobanks, Registries
Role: Full Partner

University Medical Center Göttingen

Area of work: Ethical Legal Social Issues
Role: Associated Partner

University Medical Center Groningen (UMCG)

Area of work: Biobanks, Data linkage
Role: Full Partner

University of Aveiro

Area of work: Bioinformatics
Role: Full Partner

University of Leicester

Area of work:
Role: Associated Partner

University of Malta

Area of work: Biobanks, Ethical Legal Social Issues, Impact
Role: Full Partner

University of Patras

Area of work: Bioinformatics, Genomics Platform, Impact
Role: Full Partner

University of Zurich

Area of work: Biobanks
Role: Full Partner

University Paris Diderot – Paris 7

Area of work: Registries
Role: Full Partner

Uppsala University

Area of work: Ethical Legal Social Issues
Role: Full Partner

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